Canonical Allele Identifier: CA349445812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543262A>C , CM000664.2:g.178543262A>C GRCh38
NC_000002.11:g.179407989A>C , CM000664.1:g.179407989A>C GRCh37
NC_000002.10:g.179116235A>C NCBI36
NG_011618.3:g.292541T>G , LRG_391:g.292541T>G
NG_051363.1:g.25436A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.89007T>G (TTN) ENSP00000343764.6:p.Tyr29669Ter
ENST00000342175.11:c.70092T>G (TTN) ENSP00000340554.6:p.Tyr23364Ter
ENST00000359218.10:c.69891T>G (TTN) ENSP00000352154.5:p.Tyr23297Ter
ENST00000342175.10:c.70092T>G (TTN) ENSP00000340554.6:p.Tyr23364Ter
ENST00000342992.10:c.89007T>G (TTN) ENSP00000343764.6:p.Tyr29669Ter
ENST00000359218.9:c.69891T>G (TTN) ENSP00000352154.5:p.Tyr23297Ter
ENST00000460472.6:c.69516T>G (TTN) ENSP00000434586.1:p.Tyr23172Ter
ENST00000589042.5:c.96711T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr32237Ter
ENST00000591111.5:c.91788T>G (TTN) ENSP00000465570.1:p.Tyr30596Ter
ENST00000615779.4:c.91788T>G (TTN) ENSP00000483597.1:p.Tyr30596Ter
NM_001256850.1:c.91788T>G (TTN) NP_001243779.1:p.Tyr30596Ter
NM_001267550.2:c.96711T>G (TTN) MANE Select NP_001254479.2:p.Tyr32237Ter
NM_003319.4:c.69516T>G (TTN) NP_003310.4:p.Tyr23172Ter
NM_133378.4:c.89007T>G (TTN) NP_596869.4:p.Tyr29669Ter
NM_133432.3:c.69891T>G (TTN) NP_597676.3:p.Tyr23297Ter
NM_133437.4:c.70092T>G (TTN) NP_597681.4:p.Tyr23364Ter
NR_038271.1:n.446+19626A>C (TTN-AS1)
NR_038272.1:n.2043+901A>C (TTN-AS1)
XM_011511729.1:c.95808T>G (TTN) XP_011510031.1:p.Tyr31936Ter
XM_011511730.1:c.69702T>G (TTN) XP_011510032.1:p.Tyr23234Ter
XM_011511731.1:c.69561T>G (TTN) XP_011510033.1:p.Tyr23187Ter
XM_017004819.1:c.95604T>G (TTN) XP_016860308.1:p.Tyr31868Ter
XM_017004820.1:c.91002T>G (TTN) XP_016860309.1:p.Tyr30334Ter
XM_017004821.1:c.90999T>G (TTN) XP_016860310.1:p.Tyr30333Ter
XM_017004822.1:c.88041T>G (TTN) XP_016860311.1:p.Tyr29347Ter
XM_017004823.1:c.69657T>G (TTN) XP_016860312.1:p.Tyr23219Ter
XM_024453094.1:c.91152T>G (TTN) XP_024308862.1:p.Tyr30384Ter
XM_024453095.1:c.91149T>G (TTN) XP_024308863.1:p.Tyr30383Ter
XM_024453096.1:c.90582T>G (TTN) XP_024308864.1:p.Tyr30194Ter
XM_024453097.1:c.87924T>G (TTN) XP_024308865.1:p.Tyr29308Ter
XM_024453098.1:c.87843T>G (TTN) XP_024308866.1:p.Tyr29281Ter
XM_024453099.1:c.69606T>G (TTN) XP_024308867.1:p.Tyr23202Ter
XM_024453100.1:c.59460T>G (TTN) XP_024308868.1:p.Tyr19820Ter